Spondyloepimetaphyseal dysplasia Shohat type
Alternate names
SEMD Shohat type
Definition
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
Epidemiology
The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy.
Cause
The causative gene has not yet been identified.
Inheritance
Autosomal recessive inheritance has been suggested.
Signs and symptoms
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Abnormal epiphyseal ossification
- Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
- Abnormality of the ribs(Rib abnormalities)
- Flat acetabular roof
- Genu varum(Outward bow-leggedness)
- Lumbar hyperlordosis(Excessive inward curvature of lower spine)
- Metaphyseal widening(Broad wide portion of long bone)
- Micromelia(Smaller or shorter than typical limbs)
- Platyspondyly(Flattened vertebrae)
- Severe short stature(Dwarfism)
- Short femur(Short thighbone)
- Short iliac bones(Short pelvis bones)
- Short neck(Decreased length of neck)
- Short thorax(Shorter than typical length between neck and abdomen)
- Spondyloepimetaphyseal dysplasia
- Thin vermilion border(Decreased volume of lip)
30%-79% of people have these symptoms
- Abdominal distention(Abdominal bloating)
- Depressed nasal bridge(Depressed bridge of nose)
- Gait disturbance(Abnormal gait)
- Hepatomegaly(Enlarged liver)
- Joint hyperflexibility(Joints move beyond expected range of motion)
- Round face(Circular face)
- Splenomegaly(Increased spleen size)
5%-29% of people have these symptoms
- Wormian bones(Extra bones within cranial sutures)
1%-4% of people have these symptoms
- Hoarse voice(Hoarseness)
Diagnosis
Treatment
NIH genetic and rare disease info
Spondyloepimetaphyseal dysplasia Shohat type is a rare disease.
Resources
Frequently asked questions
Additional resources | |
|---|---|
Spondyloepimetaphyseal dysplasia Shohat type | |
| About WikiMD |  |
 | This Spondyloepimetaphyseal dysplasia Shohat type article is a stub. You can help WikiMD by expanding it. |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju
